GNE – related severe congenital macrothrombocytopenia: A case report and literature review

GNE – related severe congenital macrothrombocytopenia: A case report and literature review

Congenital thrombocytopenia results from genetic mutations in genes implicated in megakaryocyte differentiation and/or platelet formation and clearance. We report the case of an 11-month-old girl who presented with severe macrothrombocytopenia since birth and subsequently developed an intracranial b...

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Bibliographic Details
Main Authors: Muhammad Matloob Alam, Abdulrhman Alathaibi, Muhammad Kashif, Mohammed Zakaria, Ruwayd Adel Attar, Hamdan Saeed Al-Ghamdi, Abdullah Obaid Al Harbi
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2022-01-01
Series:Journal of Applied Hematology
Subjects:
congenital
gne gene mutation
macro/thrombocytopenia
myopathy
intracranial bleeding
sialic acid
Online Access:http://www.jahjournal.org/article.asp?issn=1658-5127;year=2022;volume=13;issue=4;spage=280;epage=284;aulast=Alam

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http://www.jahjournal.org/article.asp?issn=1658-5127;year=2022;volume=13;issue=4;spage=280;epage=284;aulast=Alam

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